Functional analysis of a promoter variant identified in the CFTR gene in cis of a frameshift mutation

Importantly, this patient presents with no intellectual disability or language impairment, despite a de novo heterozygous frameshift pathogenic variant in TBR1, leading to an

We first present a generic promoter-centered model of the stochastic expression of a single gene - that can represent arbitrary regulatory systems from prokaryotes to eukaryotes -

The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) 3 provided unrelated non-BRCA1/2 breast cancer cases from multiple-case breast and

Abstract Nondeletional hereditary persistence of fetal he- moglobin (nd-HPFH), a rare hereditary condition resulting in elevated levels of fetal hemoglobin (Hb F) in adults,

Title: Diversity of class 1 integron gene cassette Pc promoter variants in clinical Escherichia coli strains and description of a new P2 promoter variant.. Authors: Laura Vinu´e,

The lower TERT promoter mutation rate in MPM tumor samples than in MPM in culture could be related to decreased sensitivity to detect mutations in frozen tumors due to the presence

The proximal enhancer (PE) is located about 1.2 kb upstream, within conserved regions (CR2 and CR3) and is responsible for POU5F1 expression in embryonic ectoderm and mouse

Our second attack shows that when random nonces are used and when the length of the associated data is missing, 2 ℓ/2 encryption queries allows to forge a valid encrypted message